1216.1 - Cystic fibrosis transmembrane regulator (CFTR) testing

Page last updated: 03 August 2017

Application Detail

Status

Open

Description of Medical Service

Genetic testing for hereditary mutations in the CFTR gene involving an individual clinically suspected to have one of the CFTR-related disorders or prenatal diagnosis of pregnancies at high risk of cystic fibrosis.

Description of Medical Condition

Mutations in CFTR are associated with a spectrum of clinical phenotypes known collectively as the CFTR-related disorders. These include classical cystic fibrosis, bronchiectasis, chronic pancreatitis and infertility in males associated with congenital absence of the vas deferens, amongst others.